Krabbe's Disease: Clinical Presentation of Neurological Variants

Abstract

Neurological variants in clinical presentation of Krabbe's disease, the infantile and the late-onset (late infantile-juvenile) types are reviewed. The nosology of the infantile type is discussed on the basis of experiences from eighty Swedish cases in 1953-82 and a penetration of the literature. The classical irritative-hypertonic presentation with onset at three to five months of age is concluded to be the very predominant one (> 90%). Neonatal failure-to-thrive, infantile spasms, hemiplegic and prolonged floppy infant presentations are much more rare variants. The latter is believed to constitute a nosologic entity of its own, possibly more connected to the heterogeneous late-onset type (≥ eighteen months at onset), not observed in Sweden so far. Twenty-four late-onset cases from the literature and one personal Norwegian case are surveyed. It is concluded that the classical infantile type and the late-onset type (types) are different disease entities.

Krabbe's disease or globoid cell leukodystrophy (GLD), the classical infantile form of which has been penetrated in detail by Knud Krabbe (1916) regarding the history, clinical presentation and natural course, is usually thought to have almost specific symptomatology at a certain age of onset and therefore to be easy to identify. Today we know, however, that there are variants with differences in age of onset and in clinical manifestations at presentation, which are sometimes difficult to suspect diagnostically and to interpret correctly. Clinically, GLD can be divided according to the age of onset, into three main forms - infantile, late-onset (late infantile - juvenile) and adult. The adult form has been described in old and less convincing case reports and its existence has been questioned (Suzuki and Suzuki 1983); this form will not be dealt with further in this paper. The infantile and the late-onset forms can be subgrouped according to their clinical mode of presentation (Table I) and will be discussed under such headings below.

Key words

Krabbe's disease - Globoid cell leukodystrophy - Galactosylceram de lipidosis - Neurolipidosis